Gilbert's Syndrome
Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - J.Dylan James, Elaine Lonnemann, WikiSysop, Kim Jackson and 127.0.0.1
Definition/Description[edit | edit source]
Gilbert’s syndrome is a benign liver condition that is characterized by elevated levels of bilirubin in the bloodCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Bilirubin is produced by the breakdown of red blood cells and is able to be removed from the body after the liver converts it from unconjugated bilirubin to conjugated bilirubinCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. In individuals with Gilbert’s syndrome, there is a buildup of unconjugated bilirubin in the liver as a result of a genetic mutation of the enzyme UDP-glucuronosyltransferase 1A isoform 1 (UGT1A1), which is important in bilirubin metabolismCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. The buildup of bilirubin is particularly evident after starvation, exertion, infection, consumption of alcohol, or dehydrationCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Bilirubin levels fluctuate and rarely increase to levels that cause jaundiceCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Prevalence[edit | edit source]
Estimated to affect 3 to 7% of individuals of all racesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
More common among males (2:1) compared to females (7:1)Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Characteristics/Clinical Presentation[edit | edit source]
Symptoms of Gilbert’s syndrome may include mild jaundice of the skin and eyes and is more commonly seen when the body is under stress Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. 30% of individuals will never have any signs or symptomsCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. In the study published by Radoi et alCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title, 74% of the participants presented with recurrent asymptomatic jaundice, 66% nausea, 65% asthenia, 52% vague abdominal distention, and 8% were asymptomatic.
Associated Co-morbidities[edit | edit source]
There are no associated co-morbidities for individuals with Gilbert’s syndrome.
Medications[edit | edit source]
No medication is required for Gilbert’s syndrome. Some medications, such as the cancer therapy drug Irinotecan, may cause diarrhea for individuals with Gilbert’s syndrome. Other drugs such as Gemfibrozil, Atazanavir and indinavir may increase risks of jaundice and should also be avoided in patients with Gilbert’s SyndromeCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title
Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
Diagnosing Gilbert’s syndrome can be done by a blood test that detects elevated bilirubin levels. Most often the total level of bilirubin is less than 2 mg/dL, and the conjugated bilrubin level is normalCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. A complete blood count (CBC) and a liver function test may also be performed to rule out other diseases than can cause elevated bilirubin. The combination of normal blood and liver function tests and elevated bilirubin levels is an indicator of Gilbert's syndromeCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Genetic testing is not neededCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Gilbert’s syndrome is generally present at birth but goes unnoticed until the late teens or early twentiesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Etiology/Causes[edit | edit source]
- Inherited gene abnormality of the UGT1A1 gene which is expressed on the 2q37 chromosomeCite error: Invalid
<ref>tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid<ref>tag; name cannot be a simple integer. Use a descriptive title - Inherited autosomal recessive gene mutation, both parents must have the gene in order for it to be presentCite error: Invalid
<ref>tag; name cannot be a simple integer. Use a descriptive titleCite error: Invalid<ref>tag; name cannot be a simple integer. Use a descriptive title - Occurs in the absence of liver disease or hemolysisCite error: Invalid
<ref>tag; name cannot be a simple integer. Use a descriptive title - Liver does not properly dispose of bilirubin due to the mutation of UGT1A1Cite error: Invalid
<ref>tag; name cannot be a simple integer. Use a descriptive title - Usually goes unnoticed until after pubertyCite error: Invalid
<ref>tag; name cannot be a simple integer. Use a descriptive title - Elevated bilirubin and jaundice can come after dieting, starvation, consumption of alcohol, dehydration, increases in stress, intense physical exercise, infection or a lack of sleepCite error: Invalid
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Systemic Involvement[edit | edit source]
Individuals with Gilbert’s Syndrome were found to have reduced risk for endothelial dysfunction. Elevated bilirubin levels were found to reduce the prevalence of vascular complications and atherosclerosis in individuals with Gilbert’s Syndrome. This occurs by reducing the development of atherosclerosis by inhibiting the molecule responsible for intracellular adhesion. Dysfunction of the coronary microvasculature is also reduced due to the elevated levels of serum bilirubinCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Medical Management (Current Best Evidence)[edit | edit source]
Gilbert’s syndrome does not require any treatment. Mild jaundice may occur but does not require medical intervention. Jaundice caused from Gilbert’s Syndrome can be managed with rest, a healthy diet, and adequate fluidsCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Gilbert’s syndrome is considered a mild condition and life expectancy is not affectedCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Physical Therapy Management (Current Best Evidence)[edit | edit source]
No physical therapy management is required.
Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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